Artículos de revistas sobre el tema "SPG52"
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Behne, Robert, Julian Teinert, Miriam Wimmer, Angelica D’Amore, Alexandra K. Davies, Joseph M. Scarrott, Kathrin Eberhardt et al. "Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking". Human Molecular Genetics 29, n.º 2 (9 de enero de 2020): 320–34. http://dx.doi.org/10.1093/hmg/ddz310.
Texto completoTessa, A., R. Battini, A. Rubegni, E. Storti, C. Marini, D. Galatolo, R. Pasquariello y F. M. Santorelli. "Identification of mutations inAP4S1/SPG52 through next generation sequencing in three families". European Journal of Neurology 23, n.º 10 (22 de julio de 2016): 1580–87. http://dx.doi.org/10.1111/ene.13085.
Texto completoPerić, Stojan, Vladana Marković, Ayşe Candayan, Els De Vriendt, Nikola Momčilović, Andrija Savić, Nataša Dragašević-Mišković et al. "Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia". Cells 11, n.º 18 (8 de septiembre de 2022): 2804. http://dx.doi.org/10.3390/cells11182804.
Texto completoПухликов, Александр Валентинович y Aleksandr Valentinovich Pukhlikov. "Бирациональная геометрия многомерных многообразий Фано". Sovremennye Problemy Matematiki 19 (2014): 7–173. http://dx.doi.org/10.4213/spm52.
Texto completoZiegler, Marvin, Bianca E. Russell, Kathrin Eberhardt, Gregory Geisel, Angelica D'Amore, Mustafa Sahin, Harley I. Kornblum y Darius Ebrahimi-Fakhari. "Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7". Neurology Genetics 7, n.º 1 (29 de diciembre de 2020): e544. http://dx.doi.org/10.1212/nxg.0000000000000544.
Texto completoHand, Collette Kathleen, Geneviève Bernard, Marie-Pierre Dubé, Michael Israel Shevell y Guy Armand Rouleau. "A Novel PLP1 Mutation Further Expands the Clinical Heterogeneity at the Locus". Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 39, n.º 2 (marzo de 2012): 220–24. http://dx.doi.org/10.1017/s0317167100013263.
Texto completoLay, Patrick Chase y Gayle Woodson. "SP352 – Balloon-assisted removal of obstructing bronchial granuloma". Otolaryngology - Head and Neck Surgery 141, n.º 3 (septiembre de 2009): P202. http://dx.doi.org/10.1016/j.otohns.2009.06.648.
Texto completoAlmasoudi, Wejdan, Christer Nilsson, Ulrika Kjellström, Kevin Sandeman y Andreas Puschmann. "Co-occurrence of CLCN2-related leukoencephalopathy and SPG56". Clinical Parkinsonism & Related Disorders 8 (2023): 100189. http://dx.doi.org/10.1016/j.prdoa.2023.100189.
Texto completoMignarri, Andrea, Alessandro Malandrini, Marina Del Puppo, Alessandro Magni, Lucia Monti, Federica Ginanneschi, Alessandra Tessa, Filippo Maria Santorelli, Antonio Federico y Maria Teresa Dotti. "Treatment of SPG5 with cholesterol-lowering drugs". Journal of Neurology 262, n.º 12 (14 de noviembre de 2015): 2783–85. http://dx.doi.org/10.1007/s00415-015-7971-5.
Texto completoHanna, John, David Waterman, Monica Boselli y Daniel Finley. "Spg5 Protein Regulates the Proteasome in Quiescence". Journal of Biological Chemistry 287, n.º 41 (17 de agosto de 2012): 34400–34409. http://dx.doi.org/10.1074/jbc.m112.390294.
Texto completoBlack, Angela. "SP152 – Bioluminescent bacteria and its emerging role in otolaryngology". Otolaryngology - Head and Neck Surgery 141, n.º 3 (septiembre de 2009): P135. http://dx.doi.org/10.1016/j.otohns.2009.06.426.
Texto completoTaylor, Kevin, Rahul K. Shah y Sukgi Choi. "SP252 – Demographics of an inner-city pediatric voice clinic". Otolaryngology - Head and Neck Surgery 141, n.º 3 (septiembre de 2009): P170—P171. http://dx.doi.org/10.1016/j.otohns.2009.06.542.
Texto completoCriscuolo, C., R. Carbone, M. Lieto, S. Peluso, A. Guacci, A. Filla, M. Quarantelli, R. Lanzillo, V. Brescia Morra y G. De Michele. "SPG5 and multiple sclerosis: clinical and genetic overlap?" Acta Neurologica Scandinavica 133, n.º 6 (15 de septiembre de 2015): 410–14. http://dx.doi.org/10.1111/ane.12476.
Texto completoCiccolella, Marianna, Filippo M. Santorelli, Roberta Biancheri y Andrea Rossi. "SPG5-related spastic paraplegia and white matter abnormalities". Neuromuscular Disorders 19, n.º 7 (julio de 2009): 507–8. http://dx.doi.org/10.1016/j.nmd.2009.05.002.
Texto completoGonzalez, Michael, Sheela Nampoothiri, Cornelia Kornblum, Andrés Caballero Oteyza, Jochen Walter, Ioanna Konidari, William Hulme et al. "Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54)". European Journal of Human Genetics 21, n.º 11 (13 de marzo de 2013): 1214–18. http://dx.doi.org/10.1038/ejhg.2013.29.
Texto completoAlmasoudi, W., A. Puschmann y C. Nilsson. "Co-occurrence of leukoencephalopathy with ataxia and SPG56 in one family". Parkinsonism & Related Disorders 79 (octubre de 2020): e112. http://dx.doi.org/10.1016/j.parkreldis.2020.06.408.
Texto completoРуденская, Г. Е., В. А. Кадникова, А. Л. Чухрова, Т. В. Маркова y О. П. Рыжкова. "Rare autosomal recessive spastic paraplegias". Nauchno-prakticheskii zhurnal «Medicinskaia genetika», n.º 11() (29 de noviembre de 2019): 26–35. http://dx.doi.org/10.25557/2073-7998.2019.11.26-35.
Texto completoWallwitz, Jacqueline, Gabriela Berg, Emilio Casanova, Dagmar Stoiber y Anton Bauer. "SP152NOVEL ELISA FOR THE MEASUREMENT OF INCREASED ENDOSTATIN IN MICE WITH GLOMERULONEPHRITIS". Nephrology Dialysis Transplantation 32, suppl_3 (1 de mayo de 2017): iii155. http://dx.doi.org/10.1093/ndt/gfx141.sp152.
Texto completoKocak, Sibel, Arzu Ozdemir Kayalar, Fatih Akbay, Aysegul Kudu, Gunden Deger, Murvet Yılmaz, Kamile Gulcin Eken y Suheyla Apaydin. "SP252LEPTOSPIROSIS WITH ACUTE RENAL FAILURE AND VASCULITIS WITH PERIPHERAL GANGRENE OF THE LOWER EXTREMITIES: A CASE REPORT". Nephrology Dialysis Transplantation 32, suppl_3 (1 de mayo de 2017): iii190. http://dx.doi.org/10.1093/ndt/gfx144.sp252.
Texto completoKalaska, Bartlomiej, Krystyna Pawlak, Ewa Oksztulska-Kolanek, Tomasz Domaniewski, Beata Znorko, Malgorzata Karbowska, Aleksandra Citkowska, Piotr Jakubowski y Dariusz Pawlak. "SP352ASSOCIATION BETWEEN CENTRAL KYNURENINE METABOLISM AND BONE STRENGHT IN RATS WITH CHRONIC KIDNEY DISEASE". Nephrology Dialysis Transplantation 32, suppl_3 (1 de mayo de 2017): iii228—iii227. http://dx.doi.org/10.1093/ndt/gfx147.sp352.
Texto completoRais, Lamia, Mouhaned Hassen, Amina Gargouri, Hela Jbali, rania Khedher, Wided Smaoui, Madiha Krid et al. "SP452PERIPHERAL DIABETIC NEUROPATHY IN PATIENTS ON CHRONIC HEMODIALYSIS". Nephrology Dialysis Transplantation 32, suppl_3 (1 de mayo de 2017): iii275. http://dx.doi.org/10.1093/ndt/gfx149.sp452.
Texto completoXu, Tao, Bin Peng y Niansong Wang. "SP552EFFECTS OF HEMODIALYSIS COMBINED WITH HEMODIAFILTRATION AND CALCIUM SUPPLEMENTS ON CARDIAC STRUCTURE & FUNCTION IN MAINTENANCE HEMODIALYSIS PATIENTS WITH DIABETIC NEPHROPATHY". Nephrology Dialysis Transplantation 32, suppl_3 (1 de mayo de 2017): iii318—iii319. http://dx.doi.org/10.1093/ndt/gfx152.sp552.
Texto completoRhee, Connie, Amy You, Elani Streja, Rajnish Mehrotra, Matthew Rivara, Yoshitsugu Obi, Csaba Kovesdy y Kamyar Kalantar-Zadeh. "SP652DIALYSIS SCHEDULE AND DAY-OF-WEEK MORTALITY IN A NATIONAL DIALYSIS COHORT". Nephrology Dialysis Transplantation 32, suppl_3 (1 de mayo de 2017): iii355—iii357. http://dx.doi.org/10.1093/ndt/gfx154.sp652.
Texto completoLeone, Francesca, Paolo Gigliotti, Antonella La Russa, Martina Bonofiglio, Danilo Lofaro, Anna Perri, Donatella Vizza et al. "SP752CARD8 POLYMORPHISM PREDICT URINARY TRACT INFECTION ONSET AFTER RENAL TRANSPLANTATION". Nephrology Dialysis Transplantation 32, suppl_3 (1 de mayo de 2017): iii396. http://dx.doi.org/10.1093/ndt/gfx157.sp752.
Texto completoDmitrieva, Margarita, Tatiana Letkovskaya y Kirill Komissarov. "SP052CLINICAL FORMS OF GLOMERULONEPHRITIS WITH EXTRACAPILLARY PROLIFERATION". Nephrology Dialysis Transplantation 33, suppl_1 (1 de mayo de 2018): i363. http://dx.doi.org/10.1093/ndt/gfy104.sp052.
Texto completoBharati, Joyita, Krishan Gupta, Rajha Ramachandran, Manish Rathi, Aman Sharma y Ritambhra Nada. "SP152COMPARISON OF TWO STEROID REGIMENS IN INDUCTION THERAPY OF PROLIFERATIVE LUPUS NEPHRITIS: A RANDOMISED CONTROLLED TRIAL". Nephrology Dialysis Transplantation 33, suppl_1 (1 de mayo de 2018): i395. http://dx.doi.org/10.1093/ndt/gfy104.sp152.
Texto completoAllen, Jennifer, David Gardner, Daniel Harvey, Andrew Sharman, Shraddha Kamath, Paula Dhiman y Mark Devonald. "SP252URINARY CADMIUM AND COPPER AS BIOMARKERS OF ACUTE KIDNEY INJURY AFTER INTENSIVE CARE UNIT ADMISSION". Nephrology Dialysis Transplantation 33, suppl_1 (1 de mayo de 2018): i428—i429. http://dx.doi.org/10.1093/ndt/gfy104.sp252.
Texto completoSola, Laura, Susana Gonzalez, Juan Diaz, Federico Yandian, Maria Leyun, Manuela Bello, Karina Parodi, Ricardo Hermo y Walter Alallon. "SP352ENDOGENOUS ERYTHROPOIETIN AND ITS RELATIONSHIP WITH IRON DEFICIENCY". Nephrology Dialysis Transplantation 33, suppl_1 (1 de mayo de 2018): i464. http://dx.doi.org/10.1093/ndt/gfy104.sp352.
Texto completoSileno, Giuseppe, Alice Guerini, Massimo Torreggiani, Marco Colucci, Grazia Bonelli, Davide Catucci, Vittoria Esposito, Alice Mariotto y Ciro Esposito. "SP552RISKS AND BENEFITS OF ORAL ANTICOAGULATION THERAPY IN HEMODIALYSIS PATIENTS". Nephrology Dialysis Transplantation 33, suppl_1 (1 de mayo de 2018): i534. http://dx.doi.org/10.1093/ndt/gfy104.sp552.
Texto completoTrbojevic-Stankovic, Jasna, Edvin Hadžibulić, Branislav Andrić, Zoran Marjanović, Fatmir Birđozlić y Snežana Pešić. "SP652IS THERE A RELATIONSHIP BETWEEN MALNUTRITION-INFLAMMATION STATUS AND ANXIETY IN MAINTENANCE HEMODIALYSIS PATIENTS?" Nephrology Dialysis Transplantation 33, suppl_1 (1 de mayo de 2018): i566. http://dx.doi.org/10.1093/ndt/gfy104.sp652.
Texto completoPark, Woo Yeong, Ha Yeon Park, Sang Mok Yeo, Seong Sik Kang, Sung Bae Park, Jeongsoo Yoon, Kyubok Jin y Seungyeup Han. "SP752IMPACT OF TACROLIMUS TROUGH LEVEL IN KIDNEY TRANSPLANT RECIPIENTS ON THE POST-TRANSPLANT CLINICAL OUTCOME". Nephrology Dialysis Transplantation 33, suppl_1 (1 de mayo de 2018): i601—i603. http://dx.doi.org/10.1093/ndt/gfy104.sp752.
Texto completoTagney, J. y J. C. Haines. "SP52 Evidence-Based Practice: Addressing Gaps in Clinical Nursing Knowledge". European Journal of Cardiovascular Nursing 8, n.º 1_suppl (abril de 2009): S52. http://dx.doi.org/10.1016/s1474-5151(09)60163-8.
Texto completoPrestsæter, Sjur, Jeanette Koht, Foudil Lamari, Chantal M. E. Tallaksen, Stian Tobias Juel Hoven, Magnus Dehli Vigeland, Kaja Kristine Selmer y Siri Lynne Rydning. "Elevated hydroxycholesterols in Norwegian patients with hereditary spastic paraplegia SPG5". Journal of the Neurological Sciences 419 (diciembre de 2020): 117211. http://dx.doi.org/10.1016/j.jns.2020.117211.
Texto completoZaidi, Syed Amir, Howard M. Saal, Alberto J. Espay y Andrew P. Duker. "The “broken wishbone” splenial sign: A diagnostic hallmark for SPG54 spastic ataxia". Journal of the Neurological Sciences 403 (agosto de 2019): 114–16. http://dx.doi.org/10.1016/j.jns.2019.06.012.
Texto completoLeonardi, Luca, Lucia Ziccardi, Christian Marcotulli, Anna Rubegni, Antonino Longobardi, Mariano Serrao, Eugenia Storti et al. "Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family". Journal of Neurology 263, n.º 4 (25 de febrero de 2016): 781–83. http://dx.doi.org/10.1007/s00415-016-8066-7.
Texto completoYang, Yi-Jing, Zhi-Fan Zhou, Xin-Xin Liao, Ying-Ying Luo, Zi-Xiong Zhan, Mu-Fang Huang, Lu Zhou, Bei-Sha Tang, Lu Shen y Juan Du. "SPG46 and SPG56 are rare causes of hereditary spastic paraplegia in China". Journal of Neurology 263, n.º 10 (23 de agosto de 2016): 2136–38. http://dx.doi.org/10.1007/s00415-016-8256-3.
Texto completoShimazaki, Haruo, Yoshihisa Takiyama, Hiroyuki Ishiura, Chika Sakai, Yuichi Matsushima, Hideyuki Hatakeyama, Junko Honda et al. "A homozygous mutation ofC12orf65causes spastic paraplegia with optic atrophy and neuropathy (SPG55)". Journal of Medical Genetics 49, n.º 12 (27 de noviembre de 2012): 777–84. http://dx.doi.org/10.1136/jmedgenet-2012-101212.
Texto completoEl Matri, Khaled, Yousra Falfoul, Imen Habibi, Ahmed Chebil, Daniel Schorderet y Leila El Matri. "Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography". Genes 12, n.º 11 (15 de noviembre de 2021): 1795. http://dx.doi.org/10.3390/genes12111795.
Texto completoBiancheri, Roberta, Marianna Ciccolella, Andrea Rossi, Alessandra Tessa, Denise Cassandrini, Carlo Minetti y Filippo M. Santorelli. "White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1". Neuromuscular Disorders 19, n.º 1 (enero de 2009): 62–65. http://dx.doi.org/10.1016/j.nmd.2008.10.009.
Texto completoMinase, Gaku, Satoko Miyatake, Shin Nabatame, Hiroshi Arai, Eriko Koshimizu, Takeshi Mizuguchi, Mitsuko Nakashima et al. "An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination". Journal of Human Genetics 62, n.º 11 (20 de julio de 2017): 997–1000. http://dx.doi.org/10.1038/jhg.2017.77.
Texto completoOrlacchio, A., T. Kawarai, E. Rogaeva, Y. Q. Song, A. D. Paterson, G. Bernardi y P. H. St. George-Hyslop. "Clinical and genetic study of a large Italian family linked to SPG12 locus". Neurology 59, n.º 9 (12 de noviembre de 2002): 1395–401. http://dx.doi.org/10.1212/01.wnl.0000031423.43482.19.
Texto completoWilkinson, P. A., A. H. Crosby, C. Turner, H. Patel, N. W. Wood, A. H. Schapira y T. T. Warner. "A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia". Neurology 61, n.º 2 (21 de julio de 2003): 235–38. http://dx.doi.org/10.1212/01.wnl.0000069920.42968.8d.
Texto completoMasciullo, M., A. Tessa, S. Perazza, F. M. Santorelli, A. Perna y G. Silvestri. "Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56". European Journal of Paediatric Neurology 20, n.º 3 (mayo de 2016): 444–48. http://dx.doi.org/10.1016/j.ejpn.2016.02.001.
Texto completoStevanin, G., C. Paternotte, P. Coutinho, S. Klebe, N. Elleuch, J. L. Loureiro, E. Denis et al. "A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21". Neurology 68, n.º 21 (21 de mayo de 2007): 1837–40. http://dx.doi.org/10.1212/01.wnl.0000262043.53386.22.
Texto completoBonneau, D., J. M. Rozet, C. Bulteau, M. Berthier, R. Mettey, R. Gil, A. Munnich y M. Le Merrer. "X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus." Journal of Medical Genetics 30, n.º 5 (1 de mayo de 1993): 381–84. http://dx.doi.org/10.1136/jmg.30.5.381.
Texto completoSchüle, Rebecca, Teepu Siddique, Han-Xiang Deng, Yi Yang, Sandra Donkervoort, Magnus Hansson, Ricardo E. Madrid, Nailah Siddique, Ludger Schöls y Ingemar Björkhem. "Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis". Journal of Lipid Research 51, n.º 4 (7 de octubre de 2009): 819–23. http://dx.doi.org/10.1194/jlr.m002543.
Texto completoRubegni, Anna, Carla Battisti, Alessandra Tessa, Alfonso Cerase, Stefano Doccini, Alessandro Malandrini, Filippo M. Santorelli y Antonio Federico. "SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing". Journal of the Neurological Sciences 375 (abril de 2017): 198–202. http://dx.doi.org/10.1016/j.jns.2017.01.069.
Texto completoCloake, Nancy, Jun Yan, Atefeh Aminian, Michael Pender y Judith Greer. "PLP1 Mutations in Patients with Multiple Sclerosis: Identification of a New Mutation and Potential Pathogenicity of the Mutations". Journal of Clinical Medicine 7, n.º 10 (11 de octubre de 2018): 342. http://dx.doi.org/10.3390/jcm7100342.
Texto completoMeljon, Anna, Peter J. Crick, Eylan Yutuc, Joyce L. Yau, Jonathan R. Seckl, Spyridon Theofilopoulos, Ernest Arenas, Yuqin Wang y William J. Griffiths. "Mining for Oxysterols in Cyp7b1−/− Mouse Brain and Plasma: Relevance to Spastic Paraplegia Type 5". Biomolecules 9, n.º 4 (13 de abril de 2019): 149. http://dx.doi.org/10.3390/biom9040149.
Texto completoRimm, D. "SP152 Beyond immunohistochemistry: Accurate, reproducible and quantitative measurement of protein analyte concentrations in fixed tissue". European Journal of Cancer Supplements 7, n.º 4 (octubre de 2009): 7. http://dx.doi.org/10.1016/s1359-6349(09)72129-9.
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